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PHIP Gene

protein-coding   GIFtS: 52
GCID: GC06M079644

Pleckstrin Homology Domain Interacting Protein


(Previous symbol: WDR11)
  See PHIP-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Pleckstrin Homology Domain Interacting Protein1 2     BRWD22
WDR111 2 3     DCAF142
DDB1 And CUL4 Associated Factor 141 2     ndrp2
IRS-1 PH Domain-Binding Protein2 3     PH-Interacting Protein2
WD Repeat-Containing Protein 112 3     

External Ids:    HGNC: 156731   Entrez Gene: 550232   Ensembl: ENSG000001462477   OMIM: 6128705   UniProtKB: Q8WWQ03   

Export aliases for PHIP gene to outside databases

Previous GC identifers: GC06M079593 GC06M079645 GC06M079707 GC06M076837


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PHIP Gene:
PHIP binds the pleckstrin homology (PH) domain of insulin receptor substrate-1 (IRS1; MIM 147545), modulates
insulin signaling, and plays a role in pancreatic beta cell growth and survival (Farhang-Fallah et al., 2000
(PubMed 11018022); Podcheko et al., 2007 (PubMed 17636024)).(supplied by OMIM, Jun 2009)

GeneCards Summary for PHIP Gene:
PHIP (pleckstrin homology domain interacting protein) is a protein-coding gene. Diseases associated with PHIP include legg-calve-perthes disease. GO annotations related to this gene include histone acetyl-lysine binding and insulin receptor binding. An important paralog of this gene is BRWD1.

UniProtKB/Swiss-Prot: PHIP_HUMAN, Q8WWQ0
Function: Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell
proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1
phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PHIP gene promoter:
         AP-1   ATF-2   c-Jun   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHIP promoter sequence
   Search Chromatin IP Primers for PHIP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHIP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q14   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q14

PHIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHIP gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M079644:  view genomic region     (about GC identifiers)

Start:
79,644,136 bp from pter      End:
79,788,011 bp from pter
Size:
143,876 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PHIP_HUMAN, Q8WWQ0 (See protein sequence)
Recommended Name: PH-interacting protein  
Size: 1821 amino acids; 206689 Da
Subunit: Interacts with IRS1 and IRS2 (By similarity). Interacts (via bromo domain) with acetylated lysine
residues on histone H1.4, histone H3 and H4 (in vitro)
Sequence caution: Sequence=AAH21905.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAC11417.1; Type=Frameshift; Positions=1648;
1 PDB 3D structure from and Proteopedia for PHIP:
3MB3 (3D)    
Secondary accessions: A7J992 B2RPK4 Q05CQ9 Q5VVH4 Q66I29 Q69YV1 Q8NBZ5 Q96H52 Q96ME2 Q9H261

Explore the universe of human proteins at neXtProt for PHIP: NX_Q8WWQ0

Explore proteomics data for PHIP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys65, Lys400, Lys1005, Lys1032, Lys1150, Lys1393, Lys1528, Lys1542, Lys1736
  • Modification sites at PhosphoSitePlus

  • See PHIP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060404.3  
    ENSEMBL proteins: 
     ENSP00000275034  

    PHIP Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals PHIP Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PHIP

     
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    PHIP Assay Products:

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    Search eBioscience for ELISAs for PHIP 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DCAF: DDB1 and CUL4 associated factors
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 7):
     IPR019775 WD40_repeat_CS
     IPR028738 PHIP
     IPR001680 WD40_repeat
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain

    Graphical View of Domain Structure for InterPro Entry Q8WWQ0

    ProtoNet protein and cluster: Q8WWQ0

    1 Blocks protein domain: IPB001487 Bromodomain signature

    UniProtKB/Swiss-Prot: PHIP_HUMAN, Q8WWQ0
    Similarity: Contains 2 bromo domains
    Similarity: Contains 8 WD repeats


    Find genes that share domains with PHIP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHIP_HUMAN, Q8WWQ0
    Function: Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell
    proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1
    phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005158insulin receptor binding NAS11018022
    GO:0005515protein binding IPI11018022
    GO:0070577histone acetyl-lysine binding IDA--
         
    Find genes that share ontologies with PHIP           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Phip):
     adipose tissue  cardiovascular system  cellular  growth/size/body  homeostasis/metabolism 
     liver/biliary system  mortality/aging  muscle  respiratory system 

    Find genes that share phenotypes with PHIP           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PHIP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PHIP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHIP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PHIP

    miRNA
    Products:
        
    miRTarBase miRNAs that target PHIP:
    hsa-mir-760 (MIRT036739), hsa-mir-21-5p (MIRT030661), hsa-mir-16-5p (MIRT031492)

    Block miRNA regulation of human, mouse, rat PHIP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHIP (see all 178):
    hsa-miR-411* hsa-miR-579 hsa-miR-106a hsa-miR-605 hsa-miR-138-2* hsa-miR-519a hsa-miR-3916 hsa-miR-298
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PHIP
    Predesigned siRNA for gene silencing in human, mouse, rat PHIP

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PHIP

    Clone
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    OriGene clones in human, mouse for PHIP (see all 5)
    OriGene ORF clones in mouse, rat for PHIP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PHIP (NM_017934)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHIP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHIP
    Addgene plasmids for PHIP 

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    Browse ESI BIO Cell Lines and PureStem Progenitors for PHIP 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHIP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PHIP_HUMAN, Q8WWQ0: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus ISS--

    Find genes that share ontologies with PHIP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including PHIP: 
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PHIP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for PHIP (Q8WWQ02, 3 ENSP000002750344) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STMN4Q9H1692, 3, ENSP000003425384MINT-65452 I2D: score=5 STRING: ENSP00000342538
    ENSG00000258947Q135093I2D: score=2 
    TUBB3Q135093I2D: score=2 
    IRS2Q9Y4H23, ENSP000003650164I2D: score=1 STRING: ENSP00000365016
    DDB1Q165313, ENSP000003017644I2D: score=1 STRING: ENSP00000301764
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    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001932regulation of protein phosphorylation ISS--
    GO:0006606protein import into nucleus IEA--
    GO:0007010cytoskeleton organization IMP--
    GO:0008284positive regulation of cell proliferation ISS--
    GO:0008286insulin receptor signaling pathway NAS11018022

    Find genes that share ontologies with PHIP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PHIP



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PHIP gene: 
    NM_017934.5  

    Unigene Clusters for PHIP:

    Pleckstrin homology domain interacting protein
    Hs.511817  [show with all ESTs], Hs.606356  [show with all ESTs]
    Unigene Representative Sequences: NM_017934, BC036479
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275034(uc003piq.3 uc003pir.3 uc011dyp.2) ENST00000479165(uc003pio.4)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PHIP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHIP (see all 178):
    hsa-miR-411* hsa-miR-579 hsa-miR-106a hsa-miR-605 hsa-miR-138-2* hsa-miR-519a hsa-miR-3916 hsa-miR-298
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PHIP
    Predesigned siRNA for gene silencing in human, mouse, rat PHIP
    Clone
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    OriGene clones in human, mouse for PHIP (see all 5)
    OriGene ORF clones in mouse, rat for PHIP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PHIP (NM_017934)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHIP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHIP
    Addgene plasmids for PHIP 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PHIP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHIP
      QuantiTect SYBR Green Assays in human, mouse, rat PHIP
      QuantiFast Probe-based Assays in human, mouse, rat PHIP

    Additional mRNA sequence: BC036479.1 

    23 DOTS entries:

    DT.97858748  DT.444138  DT.97840245  DT.40311328  DT.101971611  DT.95170404  DT.97785958  DT.312165 
    DT.75124657  DT.65287333  DT.100822283  DT.91760815  DT.95227509  DT.100018230  DT.431427  DT.121387444 
    DT.121387525  DT.121387539  DT.40126062  DT.91747939  DT.99984478  DT.75177627  DT.92063679 

    Selected AceView cDNA sequences (see all 340):

    AA703383 BX282637 BM671543 CB852627 CA843527 BU674656 BC064611 AW090673 
    AI702290 BM833936 CB123709 AA772410 AI659291 AI950949 AL596484 AI702297 
    BG546595 BF224151 BM832670 CB160995 AA379329 AA853030 AI028398 AA926991 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PHIP    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:              -                       -                             -                                                                     
    SP2:                                      -                             -                                                                     
    SP3:                                                                    -                                                                     
    SP4:                                                                                                                                          


    ECgene alternative splicing isoforms for PHIP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PHIP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACAGTGAT
    PHIP Expression
    About this image


    PHIP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Limb (Muscoskeletal System)
             Limb Bud
    PHIP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHIP Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.511817 Hs.606356

    UniProtKB/Swiss-Prot: PHIP_HUMAN, Q8WWQ0
    Tissue specificity: Expressed in myeloma and epidermoid carcinoma cell lines

        Pathway & Disease-focused RT2 Profiler PCR Array including PHIP: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PHIP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHIP
    QuantiTect SYBR Green Assays in human, mouse, rat PHIP
    QuantiFast Probe-based Assays in human, mouse, rat PHIP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHIP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PHIP gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phip1 , 5 pleckstrin homology domain interacting protein1, 5 90.32(n)1
    94.95(a)1
      9 (45.18 cM)5
    839461  NM_001081216.11  NP_001074685.11 
     828661595 
    chicken
    (Gallus gallus)
    Aves PHIP1 pleckstrin homology domain interacting protein 81.41(n)
    87.98(a)
      421854  XM_003640997.2  XP_003641045.2 
    lizard
    (Anolis carolinensis)
    Reptilia PHIP6
    pleckstrin homology domain interacting protein
    83(a)
    1 ↔ 1
    1(199680100-199762047)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia phip1 pleckstrin homology domain interacting protein 73.9(n)
    78.79(a)
      100158567  XM_002936206.2  XP_002936252.2 
    zebrafish
    (Danio rerio)
    Actinopterygii phip1 pleckstrin homology domain interacting protein 64.64(n)
    70.17(a)
      569727  XM_693129.6  XP_698221.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta BRWD36
    BRWD3
    31(a)
    1 → many
    3R(20144741-20154341)


    ENSEMBL Gene Tree for PHIP (if available)
    TreeFam Gene Tree for PHIP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PHIP gene
    BRWD12  BRWD32  
    3 SIMAP similar genes for PHIP using alignment to 1 protein entry:     PHIP_HUMAN:
    BRWD3    BRWD1    POC1B

    Find genes that share paralogs with PHIP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PHIP (see all 2841)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362394
    A colorectal cancer sample4--see VAR_0362392 R I mis40--------
    VAR_0362384
    A colorectal cancer sample4--see VAR_0362382 V I mis40--------
    rs1386224541,2
    --79643677(+) GCTTTC/TGACAT 1 -- ds50010--------
    rs1879639601,2
    --79643750(+) CTATTC/TACTTG 1 -- ds50010--------
    rs1406385631,2
    --79643757(+) CTTGAA/GCATTT 1 -- ds50010--------
    rs1153633951,2
    F--79643901(+) CTATCT/ATATAT 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1458051771,2
    --79643984(+) ACAGAC/TAGAAT 1 -- ds50010--------
    rs1384584151,2
    --79643990(+) AGAATA/GAGATT 1 -- ds50010--------
    rs1812680981,2
    --79644054(+) TGCTGC/TTGGAA 1 -- ds50010--------
    rs1420202101,2
    --79644289(+) TGGCCG/TCAAGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PHIP (79644136 - 79788011 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PHIP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675407CNV Deletion23128226
    esv274137CNV Insertion20981092
    esv270820CNV Insertion20981092
    nsv819945CNV Loss19587683
    nsv518477CNV Gain19592680
    nsv830705CNV Gain17160897

    Human Gene Mutation Database (HGMD): PHIP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHIP
    DNA2.0 Custom Variant and Variant Library Synthesis for PHIP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612870    OMIM disorders: --

    1 disease for PHIP:    
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    legg-calve-perthes disease

    1 disease from the University of Copenhagen DISEASES database for PHIP:
    Legg-Calve-Perthes Disease

    Find genes that share disorders with PHIP           About GenesLikeMe


    Export disorders for PHIP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PHIP gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with PHIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of PHIP, a novel insulin receptor substrate-1 pleckstrin homology domain interacting protein. (PubMed id 11018022)1, 2, 3 Farhang-Fallah J.... Rozakis-Adcock M. (J. Biol. Chem. 2000)
    2. Identification of a WD40 repeat-containing isoform of PHIP as a novel regulator of beta-cell growth and survival. (PubMed id 17636024)1, 2 Podcheko A.... Rozakis-Adcock M. (Mol. Cell. Biol. 2007)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The functional interactome landscape of the human histone deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (Mol. Syst. Biol. 2013)
    5. Histone recognition and large-scale structural analysis of the human bromodomain family. (PubMed id 22464331)2 Filippakopoulos P.... Knapp S. (Cell 2012)
    6. Pleckstrin homology domain-interacting protein (PHIP) as a marker and mediator of melanoma metastasis. (PubMed id 22511720)1 De Semir D....Kashani-Sabet M. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    8. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C.... Cristea I.M. (Mol. Cell. Proteomics 2012)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PubMed id 21834987)2 Bai S.W.... Ridley A.J. (BMC Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55023 HGNC: 15673 AceView: PHIP Ensembl:ENSG00000146247 euGenes: HUgn55023
    ECgene: PHIP H-InvDB: PHIP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PHIP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PHIP gene:
    Search GeneIP for patents involving PHIP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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